Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder whose patients present mutations in two ribosome assembly proteins, the Shwachman-Bodian-Diamond Syndrome protein (SBDS) and the Elongation Factor-Like 1 (EFL1).
|
31838967 |
2019 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
One of the final maturation steps of the large ribosomal subunit requires the joint action of the elongation factor-like 1 (human EFL1, yeast Efl1) GTPase and the Shwachman-Diamond syndrome protein (human SBDS, yeast Sdo1) to release the eukaryotic translation initiation factor 6 (human eIF6, yeast Tif6) and allow the assembly of mature ribosomes.
|
30780079 |
2019 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The SBDS protein participates in ribosome biogenesis; however, effects beyond reduced translation efficiency are thought to be involved in SDS progression.
|
30938873 |
2019 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shwachman-Diamond Syndrome (SDS) is a rare and clinically-heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene.
|
31211692 |
2019 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene.
|
30413969 |
2019 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
|
29285795 |
2018 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS.
|
29444436 |
2018 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
|
29753700 |
2018 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Shwachman-Diamond Syndrome (SDS) is a disorder arising from mutations in the genes encoding for the Shwachman-Bodian-Diamond Syndrome (SBDS) protein and the GTPase known as Elongation Factor Like-1 (EFL1).
|
30545121 |
2018 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.
|
29375851 |
2018 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction.Mutations in the SBDS gene cause SDS.
|
27553422 |
2017 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Seventy-five to ninety percent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamond syndrome (sbds) gene.
|
28972538 |
2017 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBDS gene with concurrent TP53 mutations and a poor prognosis.
|
28177873 |
2017 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS).
|
27146429 |
2016 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The SBDS protein is important for ribosome maturation and therefore SDS belongs to the ribosomopathies.
|
26762974 |
2016 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Shwachman-Diamond syndrome (SDS) in a preterm neonate.
|
26081292 |
2015 |
Shwachman syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Shwachman-Bodian-Diamond syndrome is caused by loss of function of SBDS protein.
|
25252159 |
2015 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.
|
25729736 |
2015 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
|
25844324 |
2015 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Removal of anti-association factor, Tif6 (eIF6), by elongation factor-like 1 (EFL1) and Shwachman-Bodian-Diamond syndrome (SBDS) protein is a critical step in the late stage of ribosome maturation.
|
24406167 |
2014 |
Shwachman syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing was performed in a patient with SDS lacking biallelic SBDS point mutations.
|
24898207 |
2014 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
|
24898207 |
2014 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
|
24629175 |
2014 |
Shwachman syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
|
24388329 |
2014 |